Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R190G
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SCN5A

NM_000335.5:p.R190G

Associated Papers

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.

Ma JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C et al.

Electrophoresis, 2010

Common candidate gene variants are associated with QT interval duration in the general population.

Marjamaa A et al.

Journal of Internal Medicine, 2009

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

Fodstad H et al.

Annals of Medicine, 2006

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H et al.

Annals of Medicine, 2004

Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

Ildarova R et al.

Journal of Electrocardiology, 0

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